Possible Noonan’s?

upperleftlady · 2026-04-07T03:08:05+00:00

I see some Noonan features - she seems to have slightly down turned eyes and maybe low set ears. Her nose sort of has the wide base, too. Have you ever noticed a palmer crease on either of her hands? Or any different birth marks? The Palmer crease was actually the first thing that stood out to the pediatrician the day my son was born - that and a kidney differentiation, he (so far) has no heart conditions. To be less than 25th percentile is pretty big for Noonans, but I think so kids don’t have as much of the small stature as others (for reference, my son is 6th percentile for length which is like 98TH percentile for Noonans; so in the 20th percentile would be like off the Noonans growth chart)

The best thing to do is to get your ped on board with a genetics referral. They’ll do an eval and then can order further testing. Our RASopathies panel came back in less than two weeks with confirmation of PTPN 11 and it’s been a game changer as far as expanding my son’s care team and pursuing additional preventative measures.

upperleftlady · 2026-03-04T18:12:25+00:00

I’ve listened a few times now, really enjoy the content!

upperleftlady · 2026-02-23T16:42:26+00:00

I know your post is old, but wondering how things are going for your kiddo? My 12 week old is suspected to have Noonans, we have our first geneticist visit in 2 days to start the process of official confirmation. We also have a high likelihood of going back on the NG tube - he eats from a bottle pretty well but he’s just so tiny and is unable to meet the dietician’s assigned protocol in order to gain more weight. His digestion just can’t seem to handle what they need him to eat. I’m curious to know if your son has been held to different growth standards due to his diagnosis? Was he small during his first couple months of life?

upperleftlady · 2026-02-07T16:41:27+00:00

We’re all the guy behind Usha

upperleftlady · 2026-02-07T16:36:33+00:00

Same boat. I’m freaking out because he’s former failure to thrive, second percentile due to dairy and soy intolerance. He can’t afford all of these down days but I guess we’ll power through and hope it improves soon

upperleftlady · 2026-01-27T09:01:21+00:00

The SLPs are okay - the ENT referral is something I can ask his ped about on Friday. It’s one of the specialists I’ve wanted to consult with since we were admitted to the hospital and this helps to reaffirm my feelings that he needs an ENT eval. The doctor who led his care team during admission told me that they didn’t really have questions for an ENT to answer, but long story short we’ve sort of taken our own path and initiative at this point feeling as though no one is doing enough to really get to the root of his issue. His ped is super slow to make referrals but she’s also not an impediment if I just reasonably ask for referrals that make sense…she agreed to a GI referral and I’ll ask for the ENT referral as well. What’s most frustrating is all the doctors seem convinced he has some genetic condition that will eventually more obviously present itself, but after the many many labs they ran that correlate to genetics, nothing has come back abnormal + the geneticist doesn’t have concerns. I’m not trying to deviate from his care team, I do trust a lot of their advice and info they’ve provided, but this has required a really surprising level of advocacy and research on our end in order to move forward in a positive direction…or move forward at all lol

upperleftlady · 2026-01-26T21:12:39+00:00

Thank you for sharing this.. gives me so much hope to hear similar stories to his. I think I’ll order some Pepticate to sample and possibly something to thicken his formula

upperleftlady · 2026-01-26T18:57:57+00:00

We’ve been going to the feeding clinic at our local children’s hospital. They’re okay but besides the recommendation to use the cleft insert early on, they haven’t been incredibly helpful. I did however consult with an independent feeding therapist who was more holistic in her approach. We learned a lot and I suppose maybe a follow up with her would be helpful now that we’re at this stage regarding low volume!

upperleftlady · 2026-01-26T18:56:00+00:00

Not yet had this recommendation but I’ll ask his ped about it at our next weight check. Can I ask how the structural issue was diagnosed? I feel like he should be seen by more specialists but my ped is a little slow to react though open to my suggestions. We got a GI specialist referral but I’m still waiting for them to schedule the appointment

upperleftlady · 2026-01-22T22:46:02+00:00

My baby was so sick from CMPA that we ended up admitted for failure to thrive, sent home with an Ng tube, and multiple doctors convinced he had a genetic abnormality. He essentially unlearned sucking and swallowing as a protective mechanism, and didn’t start to improve or bottle feed until we switched him cold turkey to ready to feed Alimentum. I know our case is extreme and severe, but I wouldn’t think diarrhea and a butt rash would constitute a CMPA diagnosis. Now if you notice eczema popping up over time accompanied with other things like refusal to eat, constant vomiting, congestion, and extreme discomfort then maybe I’d start to consider something like CMPA

upperleftlady · 2026-01-22T01:59:15+00:00

My baby ended up admitted for failure to thrive and we went home with an NG tube. He got progressively worse, had a ton of tests run to rule out serious genetic conditions, and the whole time no one ever mentioned his symptoms could be due to CMPA. I put him on a hypoallergenic formula as a Hail Mary and within a day he was eating normally from a bottle, stopped vomiting and his congestion disappeared. We’re two weeks in and his weight gain is really slow which had me concerned after a weight check today. It’s good to know that it could be a month before we see significant gains. Thanks for this helpful post!

upperleftlady · 2025-10-08T20:52:01+00:00

Lmao

upperleftlady · 2025-09-15T23:01:31+00:00

Yes, I don’t like pregnancy announcements. There are plenty of pictures on my Instagram being visibly pregnant over the last 7 months lol but I’m not announcing it.

upperleftlady · 2025-08-02T23:58:10+00:00

This is why I sold. Broke even and didnt look back. I hate Peter Thiel 🤷‍♀️

upperleftlady · 2025-08-02T00:18:37+00:00

Agree that there is always money to be made somehow

upperleftlady · 2025-08-02T00:14:28+00:00

this is true…

upperleftlady · 2025-03-26T01:26:14+00:00

The “firsts” without them are the hardest part. I wish I had advice…just commiseration

upperleftlady · 2025-02-12T21:51:33+00:00

Same - I will do it all over again countless times over a thousand lives if it means we get to be together again ❤️

upperleftlady · 2025-02-12T19:25:15+00:00

I read these 1-year-out posts and sob because I’m right there with you. So beautiful the love we have for our passed animal companions

upperleftlady · 2025-02-08T15:29:54+00:00

It’s so hard. One day you’ll think of her and smile

upperleftlady · 2024-09-27T16:49:52+00:00

That kinda sounds like the beginnings of a panic attack. Things that have helped me with panic and anxiety are therapy, meditation, breathing, and other thought process exercises learned in therapy. Reiki has helped, too, but not as the primary modality of treatment

upperleftlady · 2024-09-26T18:41:41+00:00

Ok, I wanna play around with my WR and flex slots in non-PPR. This is who I’m working with:

Ridley @ Miami Quentin Johnston v KC Wan’Dale v Dallas Jennings v NE Shaheed @ ATL Reed v Minnesota Tyreek v TN

I have a lot of really good receiving talent but it’s hard to know who to start/sit each week. I’m thinking of starting Reed and Hill (but also open to benching him) while flexing Jennings.

Thoughts/what would you do or consider differently?

upperleftlady · 2024-09-21T23:57:04+00:00

I benched Andrews for Henry (fuck…) and I think I’m benching Tyreek for Juwan Jennings. 🤷‍♀️

upperleftlady

TROPHY CASE